Results 71 to 80 of about 7,620,483 (116)

Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism [PDF]

, 2020
The Author(s) (2020).Huntington’s disease and X-linked dystonia parkinsonism are two monogenic basal ganglia model diseases. Huntington’s disease is caused by a polyglutamine-encoding CAG repeat expansion in the Huntingtin (HTT) gene leading to several ...
Cabrera, Jorge R., García-Escudero, Ramón, Hernández Hernández, Ivo, Sanchez-Martin, Manuel, Lucas, José Javier, Santos Galindo, María, Cabrera, Jorge Rubén, Pérez-Álvarez, María José, Lucas, José J, Cabrera, Jorge R, Pérez Álvarez, María José, Santos-Galindo, María, Lucas, José J., Pérez-Álvarez, María J, Sánchez-Martín, Manuel A., Domínguez, Verónica, Hernández, Ivó H., Pintado, Belén, Hernández, Ivó H   +18 more
core   +1 more source

DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).

, 1994
The locus (DYT3) underlying the X-linked dystonia-parkinsonism syndrome (XDP) was delineated within proximal Xq12-Xq13.1 by analysis of linkage, allelic association, and haplotypes. Short tandem repeat polymorphisms at loci DXS227, DXS559, DXS453, DXS106,
Monaco, Anthony, Fairweather, Nicholas, Chelly, Jamel, Haberhausen, Gerd, Müller, Ulrich, Wagner, Torsten   +5 more
core   +1 more source

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing

Neurobiology of Disease
Summary: X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32 of TATA-binding protein associated ...
Kizito-Tshitoko Tshilenge, Joanna Bons, Carlos Galicia Aguirre, Cristian Geronimo-Olvera, Samah Shah, Jacob Rose, Akos A. Gerencser, Sally K. Mak, Michelle E. Ehrlich, D. Cristopher Bragg, Birgit Schilling, Lisa M. Ellerby   +11 more
doaj   +1 more source

Transcriptome‐Based Identification of ZZEF1 and ENTPD5 as Candidate Genes for Dystonia

Movement Disorders, EarlyView.
Alexandra Rudnik, Mirja Thomsen, Vicente A. Yépez, Ai Huey Tan, Frauke Hinrichs, Sebastian Loens, Shen‐Yang Lim, Yi Wen Tay, Thomas Musacchio, Sören Franzenburg, Tobias Bäumer, Marius Möller, Hauke Busch, Christine Klein, Norbert Brüggemann, Katja Lohmann   +15 more
wiley   +1 more source

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.

, 2022
INTRODUCTION: Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available.
Runkel, Eva D., Švantnerová, Jana, Zech, Michael, Berweck, S., Škorvánek, Matej, Mall, V., Dzinovic, Ivana, Eckenweiler, Matthias, Švantnerová, J., Weise, D., Held, Valentin, Winkelmann, Juliane, Weise, David, Mall, Volker, Haslinger, Bernhard A., Winkelmann, J., Zech, M., Pavelekova, Petra, Havránková, P., Tsoma, E., Pavelekova, P., Janzarik, W.G., Havránková, Petra, Necpál, J., Boesch, Sylvia, Berweck, Steffen, Škorvánek, M., Held, V., Runkel, E., Jech, Robert, Indelicato, E., Eckenweiler, M., Boesch, S., Indelicato, Elisabetta, Tsoma, Eugenia, Haslinger, B., Necpál, Ján, Jech, R., Dzinovic, I., Janzarik, Wibke, Juliane Winkelmann, Steffen Berweck, Petra Pavelekova, Elisabetta Indelicato, Jana Švantnerová, Ivana Dzinovic, Sylvia Boesch, Valentin Held, Ján Necpál, Michael Zech, Robert Jech, Volker Mall, Bernhard Haslinger, Eugenia Tsoma, Matthias Eckenweiler, Wibke Janzarik, Eva Runkel, Matej Škorvánek, Dzinovic, Ivana;Boesch, Sylvia;Škorvánek, Matej;Necpál, Ján;Švantnerová, Jana;Pavelekova, Petra;Havránková, Petra;Tsoma, Eugenia;Indelicato, Elisabetta;Runkel, Eva;Held, Valentin;Weise, David;Janzarik, Wibke;Eckenweiler, Matthias;Berweck, Steffen;Mall, Volker;Haslinger, Bernhard;Jech, Robert;Winkelmann, Juliane;Zech, Michael, David Weise, Petra Havránková   +60 more
core   +1 more source

Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency

Frontiers in Aging Neuroscience
BackgroundX-linked dystonia-parkinsonism (XDP), an adult-onset neurodegenerative disorder, is caused by an SVA insertion in the TAF1 gene, containing a hexanucleotide, the length of which is correlated to the severity of the disease.
Frida Mandik, Shela Marie Algodon, Philip Seibler, Christine Klein, Melissa Vos   +4 more
doaj   +1 more source

The roles of TAF1 in neuroscience and beyond

Royal Society Open Science
The transcriptional machinery is essential for gene expression and regulation; dysregulation of transcription can result in a range of pathologies, including neurodegeneration, cancer, developmental disorders and cardiovascular disease.
Elisa M. Crombie, Karen Cleverley, H. T. Marc Timmers, Elizabeth M. C. Fisher   +3 more
doaj   +1 more source

The prevalence of PRKRA mutations in idiopathic dystonia

, 2018
Introduction: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts.
Ferraz, Henrique Ballalai [UNIFESP], Silva-Junior, Francisco Pereira da, Puga, Renato David, João Carlos Papaterra Limongi, Henrique Ballalai Ferraz, Silva, Sonia Maria Cesar Azevedo [UNIFESP], Maria Sheila Guimarães Rocha, Aguiar, Patricia de Carvalho [UNIFESP], Egberto Reis Barbosa, Borges, Vanderci [UNIFESP], Barbosa, Egberto Reis, Rocha, Maria Sheila Guimaraes, Sonia Maria Cesar Azevedo Silva, Limongi, Joao Carlos Papaterra, Camila Oliveira dos Santos, Renato David Puga, Francisco Pereira da Silva-Júnior, Patricia de Carvalho Aguiar, Vanderci Borges, Santos, Camila Oliveira dos   +19 more
core   +1 more source

Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4

Nature Communications
Transcription and mRNA processing are tightly coupled regulatory layers on gene expression, and their perturbations underly human disorders. X-linked Dystonia-Parkinsonism (XDP) is a unique example of a human disease connecting aberrant mRNA processing ...
Simona Capponi, Sandra Ehret, Zeynep Camgöz, Fabian Gather, Christine A. Vaine, Ezgi Özyerli-Göknar, Marie Follo, D. Cristopher Bragg, Tanja Vogel, H. Th. Marc Timmers   +9 more
doaj   +1 more source

Research productivity of the Department of Neurosciences of the University of the Philippines Manila: a bibliometric analysis

Cogent Education
Research output is widely recognized as a key indicator of productivity and a measure of the status of a nation’s research activity. This bibliometric analysis examined the research productivity of the Department of Neurosciences at the University of the
Mykha Marie B. Tabuzo, Ena Elizabeth L. Naoe, Veeda Michelle M. Anlacan, Roland Dominic G. Jamora   +3 more
doaj   +1 more source